UNIVERSITY OF CONNECTICUT
Alternative splicing is a common mechanism by which eukaryotes regulate gene expression and is the primary means of enhancing the diversity of proteins encoded by the genome. In addition, defects in alternative splicing can result in many human diseases including cancer, Spinal Muscular Atrophy, Frontotemporal Dimentia, Cystic Fibrosis, and Myotonic Dystrophy. Thus, understanding the mechanisms by which alternative splicing is regulated is of tremendous importance to human health. Alternative splicing is an important means of regulating gene expression. Induced pluripotent stem cells (iPS) make it possible to generate stem cells from adult somatic cells allowing for disease-specific stem cells to be generated and studied. The goal of this proposal is to identify alternative splicing differences between iPS cells made from normal and Angleman Syndrome patients as a means of investigating the contribution of alterantive splicing to this human disease.